Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Identifieur interne : 002265 ( Istex/Curation ); précédent : 002264; suivant : 002266Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Auteurs : Xianshu Wang ; V. Shane Pankratz ; Zachary Fredericksen ; Robert Tarrell ; Mary Karaus ; Lesley Mcguffog ; Paul D. P. Pharaoh [Royaume-Uni] ; Bruce A. J. Ponder [Royaume-Uni] ; Alison M. Dunning [Royaume-Uni] ; Susan Peock ; Margaret Cook ; Clare Oliver ; Debra Frost ; Olga M. Sinilnikova ; Dominique Stoppa-Lyonnet [France] ; Sylvie Mazoyer ; Claude Houdayer [France] ; Frans B. L. Hogervorst ; Maartje J. Hooning ; Marjolijn J. Ligtenberg ; Amanda Spurdle ; Georgia Chenevix-Trench ; Rita K. Schmutzler ; Barbara Wappenschmidt ; Christoph Engel ; Alfons Meindl ; Susan M. Domchek ; Katherine L. Nathanson ; Timothy R. Rebbeck ; Christian F. Singer ; Daphne Gschwantler-Kaulich ; Catherina Dressler ; Anneliese Fink ; Csilla I. Szabo ; Michal Zikan ; Lenka Foretova ; Kathleen Claes ; Gilles Thomas ; Robert N. Hoover ; David J. Hunter [États-Unis] ; Stephen J. Chanock [États-Unis] ; Douglas F. Easton ; Antonis C. Antoniou ; Fergus J. Couch [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2010-07-15.
Abstract
Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 × 10−3) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (Ptrend < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69–0.90, Ptrend = 3.6 × 10−4 and HR = 1.25, 95% CI: 1.10–1.41, Ptrend = 4.2 × 10−4), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25–1.92, Ptrend = 6 × 10−5 and HR = 1.37, 95% CI: 1.16–1.62, Ptrend = 1.7 × 10−4). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.
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DOI: 10.1093/hmg/ddq174
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Xianshu Wang<affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pathology, Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar, Technical University, Munich, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation>Le document en format XML
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Ponder</name><affiliation wicri:level="4"><mods:affiliation>Department of Oncology, University of Cambridge, Cambridge, UK,</mods:affiliation><orgName type="university">Université de Cambridge</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation wicri:level="4"><mods:affiliation>Department of Oncology, University of Cambridge, Cambridge, UK,</mods:affiliation><orgName type="university">Université de Cambridge</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><mods:affiliation>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation wicri:level="4"><mods:affiliation>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France,</mods:affiliation><orgName type="university">Université Paris-Descartes</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><mods:affiliation>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation wicri:level="4"><mods:affiliation>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France,</mods:affiliation><orgName type="university">Université Paris-Descartes</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><mods:affiliation>Department of Pathology, Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><mods:affiliation>Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J" sort="Ligtenberg, Marjolijn J" uniqKey="Ligtenberg M" first="Marjolijn J." last="Ligtenberg">Marjolijn J. Ligtenberg</name><affiliation><mods:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><mods:affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar, Technical University, Munich, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation></author><author><name sortKey="Zikan, Michal" sort="Zikan, Michal" uniqKey="Zikan M" first="Michal" last="Zikan">Michal Zikan</name><affiliation><mods:affiliation>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><mods:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><mods:affiliation>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Brigham and Women's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation wicri:level="1"><mods:affiliation>Advanced Technology Center, National Cancer Institute, Gaithersburg, MD, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Advanced Technology Center, National Cancer Institute, Gaithersburg, MD</wicri:regionArea></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: couch.fergus@mayo.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B9095787ABE72D47233C369EF1B0C472B222BCAC</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1093/hmg/ddq174</idno><idno type="url">https://api.istex.fr/document/B9095787ABE72D47233C369EF1B0C472B222BCAC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002265</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002265</idno><idno type="wicri:Area/Istex/Curation">002265</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers</title><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation></author><author><name sortKey="Pankratz, V Shane" sort="Pankratz, V Shane" uniqKey="Pankratz V" first="V. Shane" last="Pankratz">V. Shane Pankratz</name><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Tarrell, Robert" sort="Tarrell, Robert" uniqKey="Tarrell R" first="Robert" last="Tarrell">Robert Tarrell</name><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Karaus, Mary" sort="Karaus, Mary" uniqKey="Karaus M" first="Mary" last="Karaus">Mary Karaus</name><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Pharaoh, Paul D P" sort="Pharaoh, Paul D P" uniqKey="Pharaoh P" first="Paul D. P." last="Pharaoh">Paul D. P. Pharaoh</name><affiliation wicri:level="4"><mods:affiliation>Department of Oncology, University of Cambridge, Cambridge, UK,</mods:affiliation><orgName type="university">Université de Cambridge</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Ponder, Bruce A J" sort="Ponder, Bruce A J" uniqKey="Ponder B" first="Bruce A. J." last="Ponder">Bruce A. J. Ponder</name><affiliation wicri:level="4"><mods:affiliation>Department of Oncology, University of Cambridge, Cambridge, UK,</mods:affiliation><orgName type="university">Université de Cambridge</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation wicri:level="4"><mods:affiliation>Department of Oncology, University of Cambridge, Cambridge, UK,</mods:affiliation><orgName type="university">Université de Cambridge</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><mods:affiliation>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation wicri:level="4"><mods:affiliation>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France,</mods:affiliation><orgName type="university">Université Paris-Descartes</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><mods:affiliation>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation wicri:level="4"><mods:affiliation>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France,</mods:affiliation><orgName type="university">Université Paris-Descartes</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><mods:affiliation>Department of Pathology, Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><mods:affiliation>Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J" sort="Ligtenberg, Marjolijn J" uniqKey="Ligtenberg M" first="Marjolijn J." last="Ligtenberg">Marjolijn J. Ligtenberg</name><affiliation><mods:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><mods:affiliation>Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><mods:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><mods:affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar, Technical University, Munich, Germany,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><mods:affiliation>University of Pennsylvania, Philadelphia, PA, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name><affiliation><mods:affiliation>Medical University of Vienna, Vienna, Austria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry></affiliation></author><author><name sortKey="Zikan, Michal" sort="Zikan, Michal" uniqKey="Zikan M" first="Michal" last="Zikan">Michal Zikan</name><affiliation><mods:affiliation>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><mods:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><mods:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><mods:affiliation>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA,</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Brigham and Women's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation wicri:level="1"><mods:affiliation>Advanced Technology Center, National Cancer Institute, Gaithersburg, MD, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Advanced Technology Center, National Cancer Institute, Gaithersburg, MD</wicri:regionArea></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name><affiliation><mods:affiliation>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><mods:affiliation>Department of Laboratory Medicine and Pathology and</mods:affiliation></affiliation><affiliation><mods:affiliation>Health Sciences Research, Mayo Clinic, Rochester, MN, USA,</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: couch.fergus@mayo.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2010-07-15">2010-07-15</date><biblScope unit="volume">19</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2886">2886</biblScope><biblScope unit="page" to="2897">2897</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 × 10−3) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (Ptrend < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69–0.90, Ptrend = 3.6 × 10−4 and HR = 1.25, 95% CI: 1.10–1.41, Ptrend = 4.2 × 10−4), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25–1.92, Ptrend = 6 × 10−5 and HR = 1.37, 95% CI: 1.16–1.62, Ptrend = 1.7 × 10−4). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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